{{Rsnum
|rsid=62625014
|Gene=CNGA1
|Chromosome=4
|position=47937535
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CNGA1,LOC101927157
}}{{omim
|id=123825
|rsnum=62625014
|variant=0003
}}{{ClinVar
|rsid=62625014
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=47939552
|CHROM=4
|GMAF=0.0005
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050060000000000016110100
|GENEINFO=CNGA1:1259
|GENE_NAME=CNGA1
|GENE_ID=1259
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000004.11:g.47939552G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=123825.0003
|CLNSIG=5
|CLNCUI=C3151059
|CLNDBN=Retinitis pigmentosa 49
|Disease=Retinitis pigmentosa 49
|CLNACC=RCV000018440.26
|Tags=PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3151059:613756:791
|COMMON=0
}}{{GET Evidence
|gene=CNGA1
|aa_change=Ser320Phe
|aa_change_short=S320F
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs62625014
|overall_frequency_n=1
|overall_frequency_d=128
|overall_frequency=0.0078125
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=5
|autoscore=2
|webscore=N
}}